Recently, Mike and I were able to take a trip of a lifetime; thanks to so many wonderful people. This was the first extended trip Mike and I have taken since before Emily was a thought in our minds.

We had been dreaming of attending the real Oktoberfest in Munich, Germany since early in our dating days when Mike introduced me to Oktoberfest in Minnesota. Even though our trip was packed full of adventures and excitement I had plenty of time to reflect on our life back home in the United States.

So many, thoughts popped into my mind as we were gone. I observed European children and wondered what we as Americans are doing differently? Not once did I ever see a child in any of the three countries we visited have a meltdown or getting scolded by their parents. All the children seemed happy and well behaved. Which of course made me think what are Mike and I doing wrong with our girls? Is it that our children are just so privileged and assume they deserved everything around them? I also didn't see any children on any age on electronics. The kids were either happily walking next to their parents or riding in a stroller or on a bike with them - no complaints. I was talking about my observations with one of our tour guides (who happens to be from the U.S.). He said his feelings are that American children are way overstimulated in everyday life. I actually agree.

Mike and I talked through how we could do things different with Isabelle when we got back. One thing about Isabelle is she is very strong willed (I don't know where that comes from) and she always tests the limits. Hmmm. Which for me usually results in yelling at her after the 4th or 5th time of asking her to do something. Mike and I decided we will try our best not to yell at Isabelle and come up with a better method of getting her to obey and respond on the first request. Of course, we are still working on that!

Then, my thoughts moved to Emily. My heart sank as we arrived in Munich only to see a mother sobbing and holding her limp child in her arms. I was frozen staring at them as people rushed to her rescue. From where I was standing it appeared it could have been a seizure. I began to shake as adrenaline filled every part of my body and I wanted so badly to help. The cries of this mother as she tightly held and rocked her arms chilled me to the bone. It was an emotion that was all too familiar on more than one occasion and made me think of the many mom's I know who are experiencing this exact emotion right now. As I looked back, Mike waived his arm in a motion for me to come his way as our ride was waiting to take us to our hotel. At that point I questioned if we should have ever left Emily (and Isabelle) for this vacation. It took almost an entire day for me to shake this experience, let go and move on. I knew I would never forgive myself if Emily (or Isabelle) left this world while we were out of the country having fun. But somehow I managed to let it go and move on. I was likely helped by all the strong German beer!

“We must be willing to let go of the life we planned so as to have the life that is waiting for us.” ~ Joseph Campbell

I wish I could tell all of the amazing stories about how Emily's seizures decreased or even stopped with the cannabis oil we started on July 1st, but it just hasn't happened - yet. Which brings me to seizures. Seizures "Fu**k'n" suck!!! Watching your child seize from the moment they wake up until the moment they fall asleep for the night is emotionally exhausting. Yes, I just made that about me, but this writing is about my feelings not what Emily is going through.

We have tried so many things to make the seizures stop with no success. This includes medications, energy work, therapies, VNS, diet, supplements, essential oil and now cannabis. Those damn seizures just say we are here to stay. So what do we do about the seizures?

About four or so years ago we had multiple routine appointments with Emily's neurologist where she would ask how Emily's seizures were - in my opinion. To which I would reply "I don't really notice them as much." The neurologist would interpret this statement as Emily's seizure controlled had improved. To which I would explain, "No, they haven't improved. What has improved is my acceptance of the seizures and who Emily is as a person with them." So a week or so later we would get the appointment dictations in the mail and it would state that Emily is doing very well overall. This would frustrate me to no end feeling like I wasn't being heard. My child was still seizing more than 1,000 times each day, but somehow Emily was happy and functioning to the best of her ability - so why would we change anything? Acceptance and perspective is everything.

If I had my way, I would take Emily off of the two main medications she takes for seizures. I personally feel they are not doing jack shit and the side effects and taking heavy neurological medications is just not worth it - in my opinion. Unfortunately, I don't have buy-in from Mike and Emily's neurologist so we continue to (in my opinion) over-medicate her every day.

Always look on the bright side of life!"

Although Emily has not responded to cannabis oil in the miraculous way so many other kids have, we continue to give it to her. Currently, Emily is only taking a version that has CBD only. CBD has many healing properties to it and one of the benefits we have seen is cognitive clarity. Emily's response time to questions being asked has improved. She also just seems happier overall. So, we continue to find ways to afford this crazy out-of-pocket expense each month to provide Emily with the best quality of life we can.

The photo is from a poster that we saw on the street of Amsterdam, Netherlands while walking around. If you enlarge the photo you can see so many healing properties cannabis has. I just wish our country would get on board with it. But honestly, there's no big money in cannabis so I don't see it happening anytime soon.

As I reflect back on Emily's past 10 1/2 years I am reminded of so many critical moments in her young life. The photo on the left was from around 5 days old when we were told Emily had bacterial meningitis and once she was treated life would be good and the seizures would subside. The photo on the right was taken in the PICU around 3 months of age where we almost lost Emily to the dangerous side effects of ACTH, Depakote and pneumotosis of her colon.

Today I look at Emily and she is seizing just as much as she was in the pictures above, but she looks much different.....

Emily has a love for life and a heart that just keeps on giving. People are drawn to her energy and pure heart.

So, today when I look at where she is with her neurological state, I see a child that is not in immediate life-threatening danger, a child who is as stable as we have been able to get her to this point and a child who still very much full of love and life. Yes, the seizures are still there, yes she still doesn't sleep through the night for us, yes she has dysautonomic storms daily which are awful to watch and I'm sure even more awful to experience. But somehow Emily's perspective is that life is still pure joy.

I close my ramblings today with the thought that perspective is everything. We all have hardships, loss and sadness in our lives and the way we deal with it and the timing of when we deal with it is all so individual. I have learned with Emily that accepting people for how they are is just as critical for me as it is for them to move on in life. When I lived in constant chaos, Emily seemed to be doing worse. As I have just accepted the seizures as her norm, Emily appears to be happier and so do I. I cannot change the past, but I can learn from it. Perspective molds our lives each day. I choose to accept things at face value and live life in the present.

]]>Mon, 13 Jul 2015 17:40:50 GMThttp://www.specialparentconnections.com/epilepsy-blog/ugly-crying-envy-and-even-jealously-not-appealing-but-very-realisticNever in my wildest dreams did I ever think being a parent would be so hard. My mom seemed to make it look easy and so did so many other moms around me during my childhood. I had no idea how competitive being a mom can be and maybe back when I was a kid it wasn't. But with books on the market today like "What to Expect...." its almost as if these books are setting us up against each other to make sure our kids are hitting their milestones exactly when they are "supposed to".

When my daughter, Emily, was born she had complications right off the bat. She had her first suspected seizure within hours after birth. We were told she was very sick and likely the seizures were a result of it. We were given hope that her seizures would stop when the illness had been treated with heavy antibiotics over the course of 28 days. Well that reality never happened. Ten years later Emily still seizes as much today as she did as an infant. It wasn't clear to us as to why the seizures wouldn't stop with any of the 24 medications we had tried, nor the VNS she has implanted or even the Ketogenic diet which has been known to cause seizures to subside. However, now we know Emily has a gene mutation on her sodium channel called SCN2A. This mutation is responsible for the ugly seizures which we have never been able to control with any potential solution we have tried on her.

So, getting back to my point about the milestones and expectations we have of our children as they grow and develop.... As soon as I realized Emily's life was going to be complicated, I got rid of my book titled "What to Expect: The First Year." This book was full of milestones Emily never hit and likely never will. During the first years I became isolated with Emily only spending time with her in-home therapist and the therapist we also took her to at our local therapy center.

I had great dreams of doing Mommy and Me classes through our school district with Emily. After going to my first class with her and hearing the moms there complaining about and/or comparing with each other how far ahead of the curve their child was with their milestones; I quickly realized I didn't belong there. My child was literally a blob at this point. She didn't move, stared at the ceiling fan and/or lights, couldn't and wouldn't look at my face and basically cried all of the time. Emily was nothing like the other kids her age who were exploring and active and this broke my heart.

Enter: ugly crying, envy and jealously which became a thing for me. I wanted so badly for Emily to do something - anything!! My friends would tell me what their kids were doing and I would be happy for them, but deep down inside I was mourning the loss of what I had hoped for my own child. My hopes and dreams were shattered.

When Emily was around nine months old, I joined a group through our school district called Movers & Shakers. This group was for kids with special needs who were receiving home bound birth to three services and allowed them social interaction each month with the help of specialists. This was also a great opportunity for parents to connect and also talk through their real feelings which many included the same as mine of sadness, envy and even feelings of jealousy. Many of the families we met through this group are to date still very close friends of mine and Emily's too.

I thought that being a part of this amazing group of parents with children who had similar issues to Emily that my feelings of envy and jealousy would go away along with the ugly crying. But to my surprise they did not go very far. What the hell! Here I was surrounded by people who "get it" and their kids have similar yet different challenges too. I began to get angry with myself. Clearly this was my own issue that I needed to work through. Why can't I just be happy when another person's child walks, talks, or feeds themselves - especially when they have special needs? Why does this make me jealous? Why do I envy them so? Why do the ugly tears always want to appear when someone is celebrating HUGE milestones in their special child's life? Am I a bad person?

I feel like some of this goes back to the "What to Expect" books. Reading these books during my pregnancy I was so excited and since I am a planner by nature, I knew exactly what to expect from the time of conception through the first year. I was all set, all the way down to safety measure in place at home with a child gate and sock plugs!

It almost feels like the competition continues when you arrive for a well-child visit and you have to fill out the questionnaire of what your child can and cannot do yet based on their chronological age. Competition and complaining at this point appeared to be everywhere! In public I would overhear a mom complaining about potty training, their child not wanting to dress themselves or other mundane things when all I was doing was simply trying to keep my child alive and well. It felt like envy and jealously were all around me.

Well, fast forward nine years or so. I so thought this was all a thing of my past. Since my daughter is now 10 I though envy, jealously and ugly crying were done. I have accepted Emily for who she is and exactly how she is today. It has been my passion to love her unconditionally and provide her with the best quality of life possible.

Minnesota Families who fought for medical cannabis.

Emily and me at a House of Representatives hearing.

Then enters medical cannabis and all the hope it brings along with it.... To my surprise these ugly feelings have resurfaced as we started medical cannabis with Emily about two weeks ago. In Spring of 2014 we campaigned at the Minnesota State Capitol to get medical cannabis legal for children like Emily with epilepsy which hasn't responded to pharmaceutical medications. Cannabis has shown great hope for children and many have even seen miracles of their kids becoming seizure free, walking, talking and feeding themselves! We just hope for Emily that it helps gain better control of her seizures by decreasing them in any way, shape or form. For Emily that would be her miracle!

Many of the parents and families we campaigned with started their child on cannabis the same day we did. Within 24 hours they were reporting huge gains from their children and stating better seizure control!! This was so awesome to hear and I rejoiced right along with them for the great success we all had been dreaming of. Then.....enter envy and jealously. Seriously, why can I not move on from this phase? Probably because I am human and my dreams have once again have been shattered by Emily getting worse on cannabis and not better like the other families are reporting.

I still have hope which keeps me going each day. We have a lot of room to play with Emily's cannabis yet and we will keep trying before giving up on it. I promise to do my best each day and not let the envy and jealously take control over me. I am happy to live in a state where the cannabis program brings hope and new found joy to so many families and children. I have read and researched a lot on cannabis over the last several years to learn that it can help about 90% of the patients who take it. However, I an thankful there's not a booked called: "What to Expect When Your Child Takes Medical Cannabis" or I would be in a world of trouble!

So for now, I let go of the envy, jealously and let the joy come back in! I sure hope these feeling will find their way back to the place they were stored and never to resurface again. But who am I kidding, I'm still a mom who is constantly dealing with shattered hopes and dreams - although time has made them much easier to deal with. Take care of yourself and you can take care of others so much better! Always keep believing and hope for the best, no matter what curve ball life throws your way.

I had always hoped and dreamed to have a daughter (or two) from the time I was very small. Before you were born my thoughts were consumed with how life was going to be when you arrived. As we got the news we were going to have a baby girl I celebrated both in my head and out loud. I dreamed of all of the fun things we would experience together as mother and daughter. I could feel your tiny body growing inside of me and was so anxious to see what you would look like when you arrived.

As the time of your projected birth date grew closer I became more and more excited! You decided to arrive just two weeks early due to some minor complications at the end of my very uneventful pregnancy. As you were drawn out of me into this cold and noisy world you let out a huge cry to let us know you were okay - yet upset to be pulled from such a nice warm womb. You and your dad left the operating room to get cleaned up and ready for us to meet again and for you to meet all of the family and friends who had already arrived at the hospital.

What felt like an eternity later was just over 30 minutes, but we were reunited once again. After you were passed around for a while I got you back safely in my arms. You slept in the bassinet next to my bed and never made a peep. I thought then that you were the most perfect baby in the world. That thought has never changed.

Within hours I was alarmed that you could not nurse and they talked about supplementing you with formula. By the 12 hour mark you had your first suspected seizure. I really didn't even know what that meant. Five days later you were transported by ambulance and a team of people to the closest NICU where you spent 23 more days. This was only the beginning and a small taste of what was yet to come.

Countless tests, MRIs, CT scans, x-rays, blood and urine tests, spinal taps, PICU, medically induced comas, pneumatosis of the colon, countless runs at more than 24 seizure medications, surgeries, sleepless nights, EEGs and so much more and still no answers as to why? Doctors scrutinized every little thing about you trying to pin it to a syndrome, metabolic or mitochondrial disorder. Doctors would look at you and say I think she may have _____, but stay off the Internet and don't Google it. Yeah, right! We were told so many horrible possibilities most of which you would not live past age 3.

We learned just five short months ago the root cause for all of your medical challenges is a gene mutation called SCN2A. A prognosis that does not have a great outcome, yet today you turn 10! This is a milestone worth celebrating!! I wasn't sure we would ever see you turn double digits and here you are with so much life in you and so much more to give!

Emily, you amazing us everyday. No matter how many seizures you have you still have an infectious smile and laughter that lights up a room. You have taught us that life is not always how you planned it, but that the different paths still brings with it so many great things: amazing people, new friendships, a new outlook on life, and an appreciation for each moment of every day. Because of you, we live with no regrets. Because of you, we see the beauty that many people are blind to. Because of you, we live each day as if it was our last together. Because of you, we see life with a whole other light. Because of you, we don't sweat the small stuff. You are our light, our love, our peace and our strength!

On your 10th birthday, we honor you and how perfect you are. We do not live in a world of "what if's", we live in a world of appreciation for the time we have together and the hear and now.

Emily Grace, we are honored to be with you along on this journey and look forward to celebrating so many more milestones (big or small) along the way.

We love you with all our hearts,Mom and Dad

A poem I wrote to Emily a few years ago on her birthday...On the day you were born I looked to the sky,with a joyful tear in my eye.I thanked the Lord for entrusting me with your life.I said “welcome to the world, this is your new life!”I promised to protect you through the challenges you’d face,But I had no idea just what was in place.Your body would shake from the seizures in your brain,I would call out to God to help ease your pain.I wanted so badly to get rid of the seizures,So you could have life someday as a “typical” teenager.Although it was rough for many years,I always had hope and very few fears.We almost lost you more than one time,But you held on to life and showed us you’re fine.You have taught us so much that I never expectedAnd showed there’s a lot to learn from the unexpected.Your beauty shines through both inside and out,Your love is unconditional and that’s what it is all about.I wake each morning and still thank the LordFor my beautiful girl who doesn’t speak a word.May you continue to shine as bright as the sun,And I promise to help you have as much funAs a “typical child” would each day of their lifeThat is my promise to you each day of your life!I thank you for all that you have given to meAnd want the whole world to know and to seeA beautiful girl who does not walk, talk or moveIs a blessing to all with all that you do!Today is a day to we celebrate youAnd all the gifts you have given with the things that you do!

I would love to report that everything is all unicorns and rainbows here, but the reality is that it is not:

Family Updates:I am happily through my surgery for my double mastectomy and sailing along with the reconstruction process! I do hope to have surgery again in the early part of 2015 to replace the expanders in my chest with actual implants and feel a little more like a woman than a bionic woman (with metal ports and inflatable breasts that expand and retract with the insertion of a needle and some saline).

Isabelle has been on an emotional roller coaster with all the family related health issues and surgeries that have happened in our immediate family and extended family. We are starting Isabelle with a therapist who specializes in children and "art" therapy on Monday to help her deal with all of the emotions she has been having related to all of the changes around her world.

Mike has been a rock for all of us! He took time off of work to help me and care for the girls (as I am still on a lifting restriction for quite a while longer). Since I cannot do much, Mike has been on full Emily duty taking the overnight shift as well, so as you can imagine he is exhausted! I could not ask for a better partner in all of this though!!!

And now on to Emily... Emily had been in pain starting around September with her hip, where she began protecting her leg and not relaxing it at all which made it impossible for many of her nursing cares and dressing her. September is a month where we tend to have her 6 month appointments with orthopedics, urology and PM&R (Physical Medicine and Rehabilitation) specialists. These appointments all took place within a week of each other and due to all of the issues related to each doctor's specialty and the fact that Mike was going to be off work while I was recovering from my surgery we got the stars to align to have all of these specialist work on Emily (under anesthesia) to help her feel better. Dr. Koop (Ortho) said that we could buy some time on the much needed bi-lateral hip surgery by doing a steroid injection into Emily's right hip. Dr. Ward (PM&R) said if we did phenol injections into Emily's hamstrings then her muscles would relax and not continue to pull on her hip which we learned is 75% out of the socket at all times. Dr. Vandersteen (urology) said let's try to botox Emily's overactive/neurogenic bladder to all us to cath her (like we already were) without Emily being able to pee on her own in between cathing times. This all took place on October 30th and was completed in just under 2 hours. Emily does not do well with anesthesia, pain meds, botox, or change in general, so the first few weeks were brutal for her. After the botox in her bladder took hold (which was about 2 weeks) things seemed to settle down with Emily from a full body perspective.

Looking at Emily from a neurological perspective seems to be a different story and one that we cannot seem to quite place our finger on. Emily has not been sleeping through the night (shocking - insert sarcasm, but sad). Somehow over the tail end of summer we got at least 2 solid months where Emily would sleep through the night with only a few random nights of her waking up completely. We thought the time had finally come where she would sleep through the night and not require adult intervention. Emily now seems to be having seizure activity in the night that is waking her up and keeping her from falling back to sleep. Also, when Emily gets up for the day she seems to be very lethargic and finally perks up around 10 am only to be followed by agitation. We are not sure if she is having subclinical seizures (ones that we cannot see) or if the nights are taking a hard toll on her, or if the is the "new normal" Emily we are witnessing. Either way, it is incredibly saddening.

We met with the genetic research specialist on Monday and she provided a very detailed description of Emily's genetic mutation. If interested continue reading. :) If not, continue to the next section!

SCN2A:Emily mutation happened right at conception before the zygote was even fully formed and before the fertilized egg implanted in the uterus turning into a embryo. Therefore, there is NO CURE for this. You cannot "fix" or correct DNA after it is formed. However, we are hopeful that in her lifetime we will be able to find medicines to make a band aid for this mutation and take away the seizures and help her have a quality of life like the rest of us. But we are realist here and understand that science in not yet advanced enough to "fix" what is meant to be and "cure" what happened before Emily was even a embryo.

Emily's results were this: the gene where the mutation occurred is at SCN2A it is considered Autosomal dominant - meaning if Emily has children she will have a 50% chance of passing this gene onto one or more of her own children. It is considered Characterized - which simply means this mutation IS associated with epilepsy. Her protein change is a p.G882E and her Nucleotide Change is c.2645G>A - meaning she should have a "G" but instead she has an "A". This alteration results in an amino acid substitution of Glutamic Acid (E) for Glycine (G) at the amino acid position 882. Mike and my blood samples do not show this marker which states Heterozygous meaning it is de novo - not from either parent. Her Alteration is missense which makes the wrong amino acid and changes how protein works at a cellular level.

Emily had other genes that were altered as well, but since either Mike or I had the same genetic markers they are considered benign and not relevant. We had our testing done through Ambry Genetics which does not provide the specific additional mutations. The reason for this is because they are not relevant and it ends up confusing families even more. with computer prediction models (in silico models) Ambry is able to determine that the main cause of all of Emily's issues is the mutation at SCN2A. Other labs like Baylor will lst out all of these additional mutations and it appears that the patient is more complex than the end result of a mutation of SCN2A.

We will also get what is referred to as a secondary findings report for Emily. This will come in the next 1 - 3 months and let us know if she is predisposed to any other medical conditions, cancers, etc. minus anything related to Alzheimer's or dementia. However, the SCN2A gene has been know to cause dementia and also schizophrenia in patients that have those diagnosis and had their exomes tested positive for a SCN2A mutation.

Case Studies:In late January we will travel to Detroit Children's Hospital to be a part of a case study for children with specifically an SCN2A mutation diagnosis. Each child (over the age of 2) will have a PET scan and neuro psych work up. We will get a chance to meet (in-person) other families who have children with SCN2A diagnosis. This form of epilepsy is incredibly rare and fall on a full spectrum or severity and symptoms. We are very excited to meet these other families and to be a part of something that can bring hope and answers for the future.

We have also been asked to participate in a case study by a doctor in Germany. I don't believe this case study involves any travel - bummer! There is a German doctor named Wolfe (sp?) who is currently studying 40 children with this mutation already.

Again there is no cure for Emily, but hopefully we can find some common ground and common treatments that may just help or stop her seizures and improve the quality of life for her and all the others with this same mutation.

Possible treatment:I was fortunate enough recently to meet with another local mom whose daughter has SCN2A mutation. I also personally know another family in Northern MN whose daughter has the same genetic mutation. These two mom's have been amazing support even though most of it has been through texting, instant messaging or phone calls. :) The mother of the little girl who is most like Emily, is Tracy Umezu and her daughter is Charlotte. Charlotte got a treatment of IV lidocaine (which is commonly used in Europe and Japan for status epilepsy). Charlotte was connected to an EEG when she received this unconventional (in the US) treatment and her EEG turned to almost "normal". We have never in Emily's 9 1/2 years and 30 EEG's EVER seen a "normal" EEG. Charlotte had this treatment administered under very careful watchful eyes in the PICU and eventually transferred to the oral form of lidocaine which is called mexiletine (a cardiac medication). We see Beverly Wical at Gillette and before she would consider this treatment for Emily we needed to have EKG, Echo and Holter monitor tests completed since mexiletine is an Antiarrhythmic drug. If Emily had any unknown arrhythmia this medication could literally stop her heart and kill her. We have received the "all clear" from cardiology to pursue this medication, but I want to do it in the same manner that Charlotte did. So, in December we will discuss this option further with Dr. Wical.

Long winded! Whew the end!I know I tend to be long winded, but part of why I write these CB updates is also for myself so that I can look back at specific entries and be reminded of what was going on with Emily at certain points in life and while taking certain medications. Thank you all for your continued support!!!! We could not do all of "this" without all of you!

Well, I guess it is finally official. After literally hundreds of tests which include but are not limited to: EEGs (30 of them), CT, MRIs, blood work, urine specimens, spinal taps, and more we have an official diagnosis or cause for all of Emily's struggles. The diagnosis came through the process known as exome sequencing which both Mike and I provided blood along with Emily's sent off to Ambry Genetic Lab in California. You might be wondering what exactly is exome testing/sequencing?

Lots of big words in this paragraph....It is a technique for sequencing all the protein-coding genes in a genome (known as the exome). It consists of first selecting only the subset of DNA that encodes proteins (known as exons), and then sequencing that DNA using any high throughput DNA sequencing technology. By sequencing the exome of a patient and comparing it to normal reference sequence, variations in an individual's DNA sequence can be identified and related back to the individual's medical concerns in an effort to discover the cause of the medical disorder. It is known that most of the errors that occur in DNA sequences that then lead to genetic disorders are located in the exons. Therefore, sequencing of the exome is thought to be an efficient method of analyzing a patient's DNA to discover the genetic cause of diseases or disabilities.

Back to my babbling..... :)Some have asked why would we possibly want a diagnosis? There are a few reasons for this: is this genetic meaning that Mike or I passed this gene along so that we can inform our siblings and test Isabelle as well AND will Isabelle develop the same thing as Emily and just has not presented symptoms yet due to a less severe mutation of the same gene? We were told the diagnosis is de novo - meaning neither parent has this same marker/mutation. Yes, it is true, there is no cure for Emily. However, having this known cause is both and "ah ha" moment and also lets us know that her struggles are related to her sodium channels.

The sodium channels are responsible for the electricity that makes your brain and heart function properly. So, with that being said we are now adding a Cardiologist to Emily's team of over 10 specialists. Emily will be getting a EKG, ECHO and have to wear a Holter for 24 - 48 hours to test her heart. This is all a precaution and to be proactive about her care. IF she gets the all clear with her heart we can look into treatment for her seizures with the aide of non-epileptic medications: lidocaine, mexilitine and/or verapamil. We might even look into getting Stiripentol from France to try as well. In the meantime, we have started a trial of acetazolamide which in the olden days was a diuretic/water pill. Somehow it works on the sodium channel to help calm it down - let's see if it works for her seizures - fingers crossed.

Emily also got the official diagnosis of Migrating Partial Epilepsy of Infancy (MPEI) on Tuesday of this week when Mike and I met with her neurologist, Beverly Wical at Gillette children's. We have talked about this diagnosis in the past, but on Tuesday it was made official. MPEI is a syndrome which means it is made up of a group of signs and symptoms that, added together, suggest a particular medical condition. In epilepsy, examples of these signs and symptoms would be things like the age at which seizures begin, the type of seizures, whether the child is male or female and whether they have physical or learning disabilities, or both. The results of an electroencephalogram (EEG) are also used to help identify epilepsy syndromes. The prognosis for this syndrome is not good.

I feel Mike and I do a good job at being realistic about Emily's future. It is hard to think of the day when your child may not be there anymore. I'm sure we all do this whether our child has special/medical needs or not. Looking in Emily's future it saddens me that she will never feel the true joy of marriage or have any children of her own. She is not likely to ever have a true relationship with a significant other and a wedding where her father could walk her down the aisle. But for now she has so much love to give and receive from those around her. None of us ever truly know how long we will be here, but it is so important to seize each moment and appreciate the little things in life. Although the prognosis of MPEI is not good and the unknown prognosis of SCN2A is there, we still try our best to take advantage of the time we have together as a family. Life is short, so live it while you can. Try things that you wouldn't like to do and notice the beauty in all that surrounds you. This is what having a child with severe medical needs has taught us and hopefully Emily can teach you this lesson as well.

I do feel closure having an official diagnosis for Emily. I can now stop the conversations I have in my head about what did I do wrong while I was pregnant. These conversations don't happen often, but now they have been put to rest for good. This is just a crazy fluke of nature. A teeny tiny little mutation in one small part of a gene that created so much havoc for Emily from the beginning of her time.

We have found a support group of families that have children diagnosis with SCN2A. The group is fairly small as this diagnosis is very rare. With the help of exome sequencing I am sure there will be more diagnosis to come and maybe even a name to this gene mutation. SCN1A is known as Dravet Syndrome - FYI. SCN2A is known to cause autism, dystonia, infantile spasms, and multiple kinds of epilepsy in varying levels. We have learned there are 600 known mutations of the SCN1A gene, but only a few of the SCN2A since it is a fairly new discovery. Both are very rare.

Just a quick update on me....For those who have not heard, I will be going through with a double mastectomy on October 24th. This seems to be the best decision for myself and my family. Prayers that all goes smooth and well are much appreciated.

So, I guess that is all for my long winded update. Thank you to everyone for continued support!!!

]]>Thu, 06 Sep 2012 18:04:34 GMThttp://www.specialparentconnections.com/epilepsy-blog/about-me-books-and-cardsEvery year that Emily has been integrated into regular education classes I have created either a Shutterfly card or book that I go in at the beginning of the school year and share with the kids. I try to make references to how similar Emily is with the things that she likes to do for fun. I usually try to incorporate some medical details about her and each year I get a little more detailed as the kids get older and can handle and understand so much more. Here are the past few that I have created starting with pre-K. The next blog contains my most recent one for 2nd grade. Please feel free to share this idea or use it yourself!

Shutterfly offers exclusive layouts and designs so you can make your book just the way you want.

]]>Thu, 23 Aug 2012 20:06:59 GMThttp://www.specialparentconnections.com/epilepsy-blog/emilys-2nd-grade-book-all-about-meEvery year I go into Emily's regular ed class and share with them a little bit about Emily. I like to compare her to them by using examples of activities that she likes to do that are age appropriate. Most years I use Shutterfly to create a card or a book to tell Emily's story. This year I did a hardcover book that I plan to leave at school all year for the kids to read as they chose. I will also make my annual trip to talk to them the first or second week of school. This seems to help break the ice for the kids and allows them to ask me questions without fear.

]]>Wed, 23 Nov 2011 19:39:03 GMThttp://www.specialparentconnections.com/epilepsy-blog/my-television-debut-15-minutes-of-fameA friend of mine, Elizabeth Mennell launched a new online television show geared just toward moms. Each show will have a guest 'expert' and a panel of moms discussing the featured topic. For more information on the show visit http://momslikeus.org/

]]>Sat, 15 Oct 2011 19:38:23 GMThttp://www.specialparentconnections.com/epilepsy-blog/you-can-control-your-destinyI recently had the opportunity to go for a walk in the woods with my three year old daughter. It was a beautiful Autumn day in Minnesota and the temperature was abnormally high around 84 degrees. As we walked quietly in the woods observing nature and the sounds we heard I came across a path that split off to the side. The path veered off to the right and I could see that it dropped off fairly steep. I quickly made sure the little one did not run ahead of me as I feared that she would slip and fall down the steep hill. I then noticed a park bench that was right at the edge of the steep drop off so we sat down to rest and take in all the beauty of this gorgeous day. As I looked forward I realized that we could vaguely see a lake below and the beautiful reflection of the sky and trees in it. It was at this moment that I realized had we not take this path to the right we would have missed out on the beauty that we were now witnessing. So, we stood on top of the bench to take it all in before heading off to the original path that lie straight ahead of us. I should probably mention that the straight ahead path was pretty, but did not present us with any additional beauty from what we had already seen on that path to that point. In fact, that path became kind of mundane and lead us right back to the parking lot.

Each day we are presented with paths that may veer off from what we think is the straight and proper path. If we do not chose to take a chance and see what the other path has to offer then how will we know what else the world has in store for us? To some degree we chose our own destiny. I personally have always been a scientific based black or white kind of person, so it is hard for me to realize sometimes that things happen for a reason and new paths are presented to us to allow us to grow and learn.

The choice is up to you. Stay on the beaten path OR take a chance to see something new and write your own destiny!

]]>Tue, 26 Apr 2011 20:03:39 GMThttp://www.specialparentconnections.com/epilepsy-blog/why-oh-whyMost days I do not think much about the many challenges Emily faces. However, there are those few days when all I can think about is: what kind of life is this for her? I am haunted by questions that seem small and petty and by ones that are much bigger like:

When she hits puberty do I shave her under arms and legs?Does she need to be put on birth control in the off chance that someone horrible takes advantage of her?Will I ever hear her speak more than a few audible words?Will she ever walk independently or ride a bike?Will she find the love of her life?Will she get the joy of walking down the aisle to marry her future husband?Will she ever have a child of her own?Does she have hopes and dreams for herself?And so on.....

I know these questions are ones that I should not dwell on and many of them are quick passing thoughts, but it can be so hard when your dream of having a child with a joyful and "easy" life are altered. My heart is so full of love for my children and I only want the best quality of life for both of them. I am very fortunate to be surrounded by amazing family and friends that understand and get what I am going through. I am so thankful to have them all here around me to help lift my spirits when they are down. I am also grateful that my family and friends agree that it is okay to have these thoughts and concerns as long as they are passing thoughts and not ones that I get hung up on. I know it is okay to think "why" and I hope you too know that it is okay to ask the questions of the unknown. ]]>